Clinical and Molecular Genetic Study of Congenital Platelets Dysfunction in Children

Abstract

Disorders of platelets function include several acquired and rare congenital disorders. Von Willebrand disease (VWD) and Glanzmann thrombasthenia (GT) are two hereditary platelets function disorders. They are characterized by easy bruising, epistaxis, menorrhagia, and excessive bleeding from trauma and surgical interventions. Von Willebrand disease (VWD) is the most common inherited bleeding disorder that affects up to 1% of the population. VWD results from a mutation in the von Willebrand Factor (VWF) gene, which alters the amount and function of VWF protein.